Canonical Allele Identifier: CA10548390

Gene: CCNQ

Linked Data

• dbSNP Id: rs782240596
• ExAC: X:152858081 C / A
• gnomAD v2: X-152858081-C-A
• gnomAD v3: X-153592623-C-A
• gnomAD v4: X-153592623-C-A
• MyVariant Identifiers: chrX:g.152858081C>A (hg19) ; chrX:g.153592623C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592623C>A , CM000685.2:g.153592623C>A	GRCh38
NC_000023.10:g.152858081C>A , CM000685.1:g.152858081C>A	GRCh37
NC_000023.9:g.152511275C>A	NCBI36
NG_008393.2:g.11555G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.540G>T MANE Select	ENSP00000461135.1:p.Gly180=
ENST00000429336.5:c.193+1924G>T
ENST00000440428.5:c.540G>T	ENSP00000402949.2:p.Gly180=
ENST00000482182.3:c.414G>T	ENSP00000466345.1:p.Gly138=
ENST00000576892.7:c.540G>T	ENSP00000461135.1:p.Gly180=
ENST00000614850.1:c.277+3381G>T
ENST00000614851.4:c.361G>T
ENST00000620088.4:c.*416G>T	ENSP00000484108.1:n.*416G>T
ENST00000621629.4:c.*416G>T	ENSP00000478747.1:n.*416G>T
ENST00000621817.1:c.*705G>T	ENSP00000481634.1:n.*705G>T
NM_001130997.2:c.540G>T	NP_001124469.1:p.Gly180=
NM_152274.4:c.540G>T	NP_689487.2:p.Gly180=
XM_005277920.3:c.510G>T	XP_005277977.1:p.Gly170=
XM_005277921.3:c.510G>T	XP_005277978.1:p.Gly170=
XM_011531213.1:c.414G>T	XP_011529515.1:p.Gly138=
XM_011531214.1:c.414G>T	XP_011529516.1:p.Gly138=
XM_011531215.1:c.414G>T	XP_011529517.1:p.Gly138=
XM_005277920.4:c.510G>T	XP_005277977.1:p.Gly170=
XM_005277921.4:c.510G>T	XP_005277978.1:p.Gly170=
XM_011531214.2:c.414G>T	XP_011529516.1:p.Gly138=
XM_011531215.2:c.414G>T	XP_011529517.1:p.Gly138=
XR_002958810.1:n.2445G>T
NM_152274.5:c.540G>T MANE Select	NP_689487.2:p.Gly180=
NM_001130997.3:c.540G>T	NP_001124469.1:p.Gly180=